All terms in DOID

Label Id Description
Erysipelothrix NCBITaxon_1647
perineural vascular plexus UBERON_0015189
capillary bed UBERON_0013141
age related macular degeneration 9 DOID_0110021 [An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13.]
D-2-hydroxyglutaric aciduria 2 DOID_0111352 [A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1.]
D-2-hydroxyglutaric aciduria DOID_0050575 [An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.]
arthrogryposis, renal dysfunction, and cholestasis 1 DOID_0111353 [An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1.]
ARC syndrome DOID_0050763 [A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.]
age related macular degeneration 10 DOID_0110022 [An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (GRCh38). TLR4 has been put forth as a candidate gene.]
Laurin-Sandrow syndrome DOID_0111350 [A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3.]
myoepithelial cell CL_0000185
D-2-hydroxyglutaric aciduria 1 DOID_0111351 [A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3.]
age related macular degeneration 8 DOID_0110020 [An age related macular degeneration that has_material_basis_in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26.]
alpha thalassemia-intellectual disability syndrome type 1 DOID_0110029 [An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others.]
age related macular degeneration 15 DOID_0110027 [An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13.]
Floating-Harbor syndrome DOID_0111358 [A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2.]
age related macular degeneration 5 DOID_0110028 [An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11.]
large congenital melanocytic nevus DOID_0111359 [A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5.]
age related macular degeneration 13 DOID_0110025 [An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25.]
hydrolethalus syndrome 2 DOID_0111356 [A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KIF7 gene on chromosome 15q26.1.]